|
International System For Human Cytogenetic Nomenclature
The International System for Human Cytogenomic Nomenclature (previously International System for Human Cytogenetic Nomenclature), ISCN in short, is an international standard for human chromosome nomenclature, which includes band names, symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. The ISCN has been used as the central reference among cytogeneticists since 1960.Slovak M.L., Theisen A., Shaffer L.G. (2013) "Human Chromosome Nomenclature: An Overview and Definition of Terms." In: Gersen S., Keagle M. (eds) ''The Principles of Clinical Cytogenetics.'' Springer, New York, NY Abbreviations of this system include a minus sign (-) for chromosome deletions, and ''del'' for deletions of parts of a chromosome. Revision history * ISCN (2020). S. Karger Publishing. * ISCN (2016). S. Karger Publishing. * ISCN (2013). S. Karger Publishing. * ISCN (2009). S. Karger Publishing. * ISCN (2005). S. Karger Publishing. * ISCN ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Chromosome
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation. Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). Before this happens, each chromosome is duplicated (S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. The joined copies are now called sis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nomenclature
Nomenclature (, ) is a system of names or terms, or the rules for forming these terms in a particular field of arts or sciences. The principles of naming vary from the relatively informal naming conventions, conventions of everyday speech to the internationally agreed principles, rules and recommendations that govern the formation and use of the specialist terms used in scientific and any other disciplines. Naming "things" is a part of general human communication using words and language: it is an aspect of everyday Taxonomy (general), taxonomy as people distinguish the objects of their experience, together with their similarities and differences, which observers Identification (information), identify, name and wikt:classification, classify. The use of names, as the many different kinds of nouns embedded in different languages, connects nomenclature to theoretical linguistics, while the way humans mentally structure the world in relation to semantics, word meanings and Experience ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome Abnormalities
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder, is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Numerical abnormality An abnormal number of chromosomes is called aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytogenetics
Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent ''in situ'' hybridization (FISH) and comparative genomic hybridization (CGH). History Beginnings Chromosomes were first observed in plant cells by Carl Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, von Waldeyer in 1888. The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (the karyotype) was the carrier of the genes. Levitsky seems to have been t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Three Chromosomal Abnormalities With ISCN Nomenclature
3 is a number, numeral, and glyph. 3, three, or III may also refer to: * AD 3, the third year of the AD era * 3 BC, the third year before the AD era * March, the third month Books * ''Three of Them'' (Russian: ', literally, "three"), a 1901 novel by Maksim Gorky * ''Three'', a 1946 novel by William Sansom * ''Three'', a 1970 novel by Sylvia Ashton-Warner * ''Three'' (novel), a 2003 suspense novel by Ted Dekker * ''Three'' (comics), a graphic novel by Kieron Gillen. * ''3'', a 2004 novel by Julie Hilden * ''Three'', a collection of three plays by Lillian Hellman * ''Three By Flannery O'Connor'', collection Flannery O'Connor bibliography Brands * 3 (telecommunications), a global telecommunications brand ** 3Arena, indoor amphitheatre in Ireland operating with the "3" brand ** 3 Hong Kong, telecommunications company operating in Hong Kong ** Three Australia, Australian telecommunications company ** Three Ireland, Irish telecommunications company ** Three UK, British teleco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Karyotype With Bands And Sub-bands
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedality, bipedalism and exceptional cognitive skills due to a large and complex Human brain, brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from family, families and kinship networks to political state (polity), states. Social interactions between humans have established a wide variety of values, norm (sociology), social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate Phenomenon, phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karger Publishers
Karger Publishers (also: Karger Medical and Scientific Publishers, S. Karger AG) is an academic publisher of scientific and medical journals and books. The current CEO is Daniel Ebneter. History The company was founded in 1890 in Berlin by Samuel Karger, who remained at the helm of the company until his death in 1935. His son, Heinz Karger led the company until his death in 1959, and Heinz's son (and Samuel's grandson) Thomas Karger took over the leadership of the company; he was followed as the company leader by his eldest son, Steven Karger, and, most recently, by his youngest daughter, Gabriella Karger, who leads the publishing house now. Its first medical journal, '' Dermatologische Zeitschrift'' (later: ''Dermatologica'', now: ''Dermatology'') was established in 1893. The company published works from well-known scientists such as Sigmund Freud. Because of political pressure from the Nazi regime, the company was relocated to Basel, Switzerland, in 1937 and lost all German au ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Locus (genetics)
In genetics, a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association mapping, also known as "linkage disequilibrium mapping", is a method of ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytogenetic Notation
The following table summarizes symbols and abbreviations used in cytogenetics: See also *Chromosome abnormalities *Directionality (molecular biology) for 3' and 5' notation *locus (genetics) for basic notational system *International System for Human Cytogenetic Nomenclature The International System for Human Cytogenomic Nomenclature (previously International System for Human Cytogenetic Nomenclature), ISCN in short, is an international standard for human chromosome nomenclature, which includes band names, symbols and a ... References Cytogenetics {{genetics-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
